Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Nlrp1a'

272994

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71092236-71144704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71122703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 574 (M574L)

Ref Sequence

ENSEMBL: ENSMUSP00000104158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]

AlphaFold

Q2LKU9

Predicted Effect

probably benign
Transcript: ENSMUST00000048514
AA Change: M574L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: M574L

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	4.6e-41	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	742	769	3.04e-5	SMART
low complexity region	856	870	N/A	INTRINSIC
Pfam:FIIND	921	1173	1.6e-102	PFAM
Pfam:CARD	1209	1292	2.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108518
AA Change: M574L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: M574L

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	1.1e-40	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	661	688	2.85e1	SMART
LRR	689	716	3.04e-5	SMART
Pfam:FIIND	819	1073	3e-136	PFAM
Pfam:CARD	1091	1174	8.2e-20	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Nlrp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Nlrp1a	APN	11	71092957	missense	probably benign	0.00
IGL00771:Nlrp1a	APN	11	71122741	nonsense	probably null
IGL01408:Nlrp1a	APN	11	71122916	missense	probably benign	0.04
IGL01886:Nlrp1a	APN	11	71123501	missense	probably benign
IGL02221:Nlrp1a	APN	11	71123118	missense	possibly damaging	0.88
IGL02291:Nlrp1a	APN	11	71122589	critical splice donor site	probably null
IGL02375:Nlrp1a	APN	11	71113513	nonsense	probably null
IGL02408:Nlrp1a	APN	11	71122630	missense	probably benign	0.00
IGL02516:Nlrp1a	APN	11	71114460	missense	probably damaging	1.00
IGL02583:Nlrp1a	APN	11	71123401	missense	probably benign	0.03
IGL02622:Nlrp1a	APN	11	71123000	missense	possibly damaging	0.88
IGL02642:Nlrp1a	APN	11	71123532	missense	probably benign	0.12
IGL02823:Nlrp1a	APN	11	71092423	missense	probably damaging	0.96
IGL02859:Nlrp1a	APN	11	71106086	missense	possibly damaging	0.57
IGL02997:Nlrp1a	APN	11	71123665	missense	probably damaging	1.00
IGL03342:Nlrp1a	APN	11	71122791	missense	probably benign	0.19
Ants	UTSW	11	71142338	missense	probably benign	0.01
dreary	UTSW	11	71113640	critical splice acceptor site	probably null
picnic	UTSW	11	71122747	missense	possibly damaging	0.87
seedless	UTSW	11	71123552	missense	probably benign	0.44
watermelon	UTSW	11	71122705	missense	probably benign	0.08
R0022:Nlrp1a	UTSW	11	71123381	missense	probably damaging	0.99
R0345:Nlrp1a	UTSW	11	71123675	missense	probably damaging	1.00
R0360:Nlrp1a	UTSW	11	71114004	intron	probably benign
R0364:Nlrp1a	UTSW	11	71114004	intron	probably benign
R0566:Nlrp1a	UTSW	11	71122942	missense	probably benign	0.00
R1177:Nlrp1a	UTSW	11	71107721	missense	probably damaging	1.00
R1240:Nlrp1a	UTSW	11	71113466	critical splice donor site	probably null
R1263:Nlrp1a	UTSW	11	71097122	missense	probably benign	0.01
R1681:Nlrp1a	UTSW	11	71142358	missense	unknown
R1743:Nlrp1a	UTSW	11	71124206	missense	probably benign	0.04
R1826:Nlrp1a	UTSW	11	71107980	intron	probably benign
R1826:Nlrp1a	UTSW	11	71122747	missense	possibly damaging	0.87
R1981:Nlrp1a	UTSW	11	71098938	missense	probably damaging	1.00
R2083:Nlrp1a	UTSW	11	71124220	missense	possibly damaging	0.59
R2116:Nlrp1a	UTSW	11	71114500	nonsense	probably null
R2134:Nlrp1a	UTSW	11	71124188	missense	probably benign	0.00
R2148:Nlrp1a	UTSW	11	71122907	nonsense	probably null
R2301:Nlrp1a	UTSW	11	71106101	missense	possibly damaging	0.94
R3029:Nlrp1a	UTSW	11	71123630	missense	probably damaging	1.00
R3113:Nlrp1a	UTSW	11	71123665	missense	probably damaging	1.00
R3898:Nlrp1a	UTSW	11	71122874	missense	probably benign	0.00
R4254:Nlrp1a	UTSW	11	71123028	nonsense	probably null
R4397:Nlrp1a	UTSW	11	71097204	missense	probably benign	0.00
R4647:Nlrp1a	UTSW	11	71097126	splice site	probably null
R4740:Nlrp1a	UTSW	11	71113640	critical splice acceptor site	probably null
R4965:Nlrp1a	UTSW	11	71092315	missense	possibly damaging	0.94
R5009:Nlrp1a	UTSW	11	71122705	missense	probably benign	0.08
R5103:Nlrp1a	UTSW	11	71099526	missense	probably damaging	0.99
R5355:Nlrp1a	UTSW	11	71124251	missense	probably benign	0.00
R5577:Nlrp1a	UTSW	11	71099574	missense	probably damaging	1.00
R5892:Nlrp1a	UTSW	11	71099645	missense	probably damaging	1.00
R5949:Nlrp1a	UTSW	11	71098989	missense	probably damaging	1.00
R5964:Nlrp1a	UTSW	11	71123020	missense	probably benign	0.00
R6220:Nlrp1a	UTSW	11	71142338	missense	probably benign	0.01
R6564:Nlrp1a	UTSW	11	71123572	missense	probably damaging	1.00
R6586:Nlrp1a	UTSW	11	71106073	missense	probably benign	0.00
R6925:Nlrp1a	UTSW	11	71092513	missense	probably null	0.99
R7013:Nlrp1a	UTSW	11	71123552	missense	probably benign	0.44
R7155:Nlrp1a	UTSW	11	71124079	missense	possibly damaging	0.93
R7214:Nlrp1a	UTSW	11	71123293	missense	probably damaging	1.00
R7268:Nlrp1a	UTSW	11	71124242	missense	probably benign	0.00
R7388:Nlrp1a	UTSW	11	71123197	missense	probably damaging	1.00
R7404:Nlrp1a	UTSW	11	71097093	nonsense	probably null
R7409:Nlrp1a	UTSW	11	71122808	missense	probably benign	0.03
R7410:Nlrp1a	UTSW	11	71123857	missense	probably damaging	0.99
R7440:Nlrp1a	UTSW	11	71092324	missense	probably damaging	0.99
R7447:Nlrp1a	UTSW	11	71092411	missense	probably damaging	1.00
R7450:Nlrp1a	UTSW	11	71107658	missense	probably damaging	1.00
R7569:Nlrp1a	UTSW	11	71109043	missense	probably benign	0.00
R7600:Nlrp1a	UTSW	11	71098914	missense	probably damaging	0.96
R7634:Nlrp1a	UTSW	11	71099528	missense	probably benign	0.19
R7734:Nlrp1a	UTSW	11	71108000	missense	unknown
R7747:Nlrp1a	UTSW	11	71123408	missense	possibly damaging	0.85
R8471:Nlrp1a	UTSW	11	71123059	missense	possibly damaging	0.68
R8482:Nlrp1a	UTSW	11	71109075	splice site	probably null
R9008:Nlrp1a	UTSW	11	71123909	missense	possibly damaging	0.89
R9028:Nlrp1a	UTSW	11	71122993	missense	probably benign	0.27
X0026:Nlrp1a	UTSW	11	71142316	missense	probably benign	0.18
Z1177:Nlrp1a	UTSW	11	71123169	missense	probably benign	0.27
Z1186:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1186:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1187:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1187:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1188:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1188:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1189:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1189:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1190:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1190:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1191:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1191:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1192:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1192:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGGGATCATGGGATTCACAG -3'
(R):5'- GCCTTCATGGAAAGACAAAGTTG -3'

Sequencing Primer
(F):5'- TGGGATCATGGGATTCACAGATAATC -3'
(R):5'- TGGCACATCCTAGGGAAATCC -3'

Posted On

2015-03-25